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Results 1 - 9 of 9 for Carpenter syndrome
  1. RAB23 gene 
    ... the RAB23 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger ... mutation that is frequently seen in individuals with Carpenter syndrome who are of northern European ancestry replaces the ...
    https://medlineplus.gov/genetics/gene/rab23 - Genetics
  2. MEGF8 gene 
    ... the MEGF8 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger ... It is unclear how MEGF8 gene mutations cause Carpenter syndrome. The mutations likely interfere with normal patterning of ...
    https://medlineplus.gov/genetics/gene/megf8 - Genetics
  3. SLC16A2 gene 
    ... article on PubMed Central Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am ...
    https://medlineplus.gov/genetics/gene/slc16a2 - Genetics
  4. COL18A1 gene 
    ... OT, Sertie AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, ... heterogeneity in Knobloch syndrome. Am J Hum Genet. 2002 Dec;71(6): ...
    https://medlineplus.gov/genetics/gene/col18a1 - Genetics
  5. NSD1 gene 
    ... N, Matsumoto N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Citation on PubMed Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, Carpenter PB. Role for the nuclear receptor-binding SET ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  6. MT-TK gene 
    ... Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G. Clinical spectrum of mitochondrial DNA ... DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  7. SLC12A6 gene 
    ... Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy ... mutations of the KCC3 gene associated with Andermann syndrome. Neurology. 2006 Apr 11;66(7):1044-8. ...
    https://medlineplus.gov/genetics/gene/slc12a6 - Genetics
  8. MPZ gene 
    ... Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  9. AUH gene 
    ... Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke ... RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21; ...
    https://medlineplus.gov/genetics/gene/auh - Genetics